Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000578618 | SCV000680530 | pathogenic | not provided | 2017-02-24 | criteria provided, single submitter | clinical testing | The R605X nonsense variant in the IGHMBP2 gene has been reported previously in association with SMARD1 (Grohmann et al., 2003). R605X is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. |
Invitae | RCV000642633 | SCV000764320 | pathogenic | Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S | 2019-12-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg605*) in the IGHMBP2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with autosomal recessive spinal muscular atrophy with respiratory distress type 1 (PMID: 14681881) and Charcot-Marie Tooth disease type 2 (PMID: 25439726). Loss-of-function variants in IGHMBP2 are known to be pathogenic (PMID: 14681881, 25439726, 25568292). For these reasons, this variant has been classified as Pathogenic. |
Inherited Neuropathy Consortium | RCV000790272 | SCV000929675 | uncertain significance | Distal spinal muscular atrophy | no assertion criteria provided | literature only | ||
Genesis Genome Database | RCV000856975 | SCV000999541 | uncertain significance | Charcot-Marie-Tooth disease | 2019-08-14 | no assertion criteria provided | research | |
Genesis Genome Database | RCV000790272 | SCV000999542 | uncertain significance | Distal spinal muscular atrophy | 2019-08-14 | no assertion criteria provided | research |